William J. Kimberling

Neuroscience · Life Sciences

64h-index15.8kcitations240works0.02yr avg
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Research Topics

Hearing, Cochlea, Tinnitus, Genetics(104), Vestibular and auditory disorders(27), Retinal Development and Disorders(22), Head and Neck Anomalies(22), RNA regulation and disease(19)

Publications236 total

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans
UNC Libraries·2020Open Access
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
Genetics in Medicine·2018· 53 citedOpen Access
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
Hearing Research·2016· 63 cited
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice
PLoS Genetics·2015· 62 citedOpen Access
Retinal Histopathology in Eyes from a Patient with Digenic Usher Syndrome Caused by Mutations in USH2A and GPR98.
Investigative Ophthalmology & Visual Science·2014
Expressivity of hearing loss in cases with Usher syndrome type IIA
International Journal of Audiology·2013· 27 cited
Advancing genetic testing for deafness with genomic technology
Journal of Medical Genetics·2013· 125 citedOpen Access
Mutation Analysis In A Large Cohort Of Individuals With Usher Syndrome
Investigative Ophthalmology & Visual Science·2012
Approaches to the treatment of usher syndrome
2012
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
PubMed·2012· 5 citedOpen Access
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
PubMed·2012· 11 citedOpen Access
Retinal Disease Course in Usher Syndrome 1B Due to<i>MYO7A</i>Mutations
Investigative Ophthalmology & Visual Science·2011· 81 citedOpen Access
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
The American Journal of Human Genetics·2011· 119 citedOpen Access
Hearing Loss Disorders Associated with Renal Disease
Advances in oto-rhino-laryngology·2011· 15 cited
Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome
Ophthalmic Genetics·2010· 31 cited
Mutations in <i>TMC1</i> are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population
Annals of Otology Rhinology & Laryngology·2010· 31 citedOpen Access
Alteration of Rod and Cone Function in Children with Usher Syndrome
European Journal of Ophthalmology·2010· 28 cited
A novel mutation in <i>COCH</i>—implications for genotype‐phenotype correlations in DFNA9 hearing loss
The Laryngoscope·2010· 21 citedOpen Access
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
Genetics in Medicine·2010· 268 citedOpen Access
Genetics and Otolaryngology
Elsevier eBooks·2010
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Frequent Co-authors

Richard J. Smith(12), Bruce F. Pennington(8), Patricia A. Gabow(7), Michael D. Weston(7), Cor W. R. J. Cremers(7), Shelley D. Smith(7), Claes Möller(6), Henry T. Lynch(5), Margaret Johnson(4), William A. Albano(4), Jane F. Lynch(4), B. Shannon Danes(4), Michael S. Hildebrand(4), Dana J. Orten(4), Philip M. Kelley(3), S. D. Smith(3), János Sümegi(3), Herbert A. Lubs(3), Guy Van Camp(3), Judith B. Kenyon(3)